Canavan Disease is associated with which of the following symptoms?

Canavan disease is a rare genetic disorder caused by a deficiency of the enzyme aspartoacylase, which leads to the accumulation of N-acetylaspartic acid in the brain. One of the hallmark features of Canavan disease is macrocephaly, or an abnormally large head circumference. This occurs due to the increased brain volume associated with the accumulation of this substance and the resultant damage to the brain tissue.

Patients with Canavan disease typically present in infancy with profound developmental delays, hypotonia, and macrocephaly. While other neurological symptoms such as seizures can occur, macrocephaly is one of the most prominent and distinctive features that can be identified early in the disease course. It is important for clinicians to recognize this symptom as part of the syndrome to ensure proper diagnosis and genetic counseling for affected families.